17p13.1 microdeletion: Genetic and clinical findings in a new patient with epilepsy and comparison with literature. Issue 1 (25th November 2013)

• Record Type: Journal Article
• Authors: Giordano, Lucio; Palestra, Filippo; Giuffrida Maria, Grazia; Molinaro, Anna; Iodice, Alessandro; Bernardini, Laura; La Boria, Paola; Accorsi, Patrizia; Novelli, Antonio
• Is Part Of: American journal of medical genetics. Volume 164:Issue 1(2014.)
• Page Start: 225
• Page End: 230
• Publication Date: 2013-11-25
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36225
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga36225-sec-0001" sec-type="section"> <p>Array comparative genomic hybridization is now a powerful tool to investigate patients with multiple congenital abnormalities and intellectual/motor impairment, and genomic imbalances are identified in a growing number of children with intellectual disability. Deletions in the 17p13.1 region have been reported in patients with dysmorphic features and developmental delay but a consistent phenotype has yet to emerge. Here, we report on the diagnosis of a 17p13.1 microdeletion of 829 kb in an 8‐year‐old girl presenting with profound cognitive disability, psychomotor delay, facial dysmorphisms, and refractory epilepsy. This deletion comprises 44 genes, including 8 OMIM morbid genes. We discuss genetic, clinical, and epileptic features comparing our patient with those previously reported in the literature. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>